Varaico: Literature-Extracted Genetic Variants

HSD3B7

79 papers

RefSeq Summary

This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded pro...

Pfam Domains

3Beta_HSDaa 13–290UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

HGNC Alias Symbols

C(27)-3BETA-HSD; SDR11E3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025193.4

p.A74A

c.222A>T

Surrounding Variants

1 paper

NM_025193.4

p.H71Q

c.213T>A

1 paper

NM_025193.4

p.H71Q

c.213T>G

1 paper

NM_025193.4

p.D66N

c.196G>A

1 paper

NM_025193.4

p.T86A

c.256A>G

1 paper

NM_025193.4

p.G88R

c.262G>A

1 paper

NM_025193.4

p.G88R

c.262G>C

1 paper

NM_025193.4

p.V58fs

c.172_173fs

1 paper

NM_025193.4

p.G56Splc

c.167-6G>A

1 paper

NM_025193.4

p.K99delFs

c.296delA

1 paper

NM_025193.4

p.K99fs

c.295_296fs

1 paper

NM_025193.4

p.H102Y

c.304C>T

2 papers

NM_025193.4

p.N105delFs

c.314delA